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Test Code 7693

Beta-Thalassemia and Hemoglobinopathy via the HBB Gene

HBB

2 - 3 weeks (7 - 16 days STAT)

Who is this test for?
  • Individuals with relevant features who have a clinical or suspected diagnosis of beta-thalassemia or sickle cell disease
  • Individuals with a positive newborn screen and/or abnormal hemoglobin gel electrophoresis results
  • Reproductive partners of individuals with a known pathogenic variant in the HBB gene, or individuals with a family history of Beta-Thalassemia
Method
NGS with CNV (Exome or Genome Platform)
Specimen(s)

Exome Platform: Blood, DNA, Buccal, Saliva, Tissue

Genome Platform: Blood, DNA

Order Options

Platform
Test type
OTHER OPTIONS
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